Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta.

Maximizing ambulation is a key treatment aim in moderate to severe osteogenesis imperfecta (OI). Here we investigated which early clinical characteristics predicted ambulation function at skeletal maturity. We assessed Bleck ambulation scores in 88 individuals with OI at 5 to 6 years of age and again at final height (at 15 to 24 years of age). At 5 to 6 years of age, 33 (38%) children were non-ambulators, 32 (36%) were fully independent ambulators, and 23 (26%) had intermediate ambulation skills. At skeletal maturity, 58% of the study participants had the same mobility level as at first assessment. The ability to ambulate independently at skeletal maturity was predicted by independent ambulation at 5 to 6 years (odds ratio [OR] 22.6, 95% confidence interval [CI] 4.9-105; P < 0.001), height z score at 5 to 6 years (OR 3.1, CI 1.6-6.3; P = 0.001) and weight z score at 5 to 6 years (OR 0.44, CI 0.19-0.99; P = 0.04).Conclusion: Independent ambulation at 5 to 6 years was the main determinant of independent ambulation at skeletal maturity. This highlights the importance of maximizing ambulation in children below 5 years of age. What is Known: •walking ability varies markedly between OI types. The highest level of mobility was found in OI type I, the lowest in OI type III who require mobility aids; intermediate levels were reported for OI type IV. • OI type is a key predictor of ultimate ability to ambulate, whereas the timing of developmental milestones was not associated with walking ability What is New: • overall key predictors of mobility function at skeletal maturity were mobility status and height z-score at 5-6 years of age • Childrenwho were non-ambulators at 5 to 6 years of age had a higher chance of having better mobility at skeletal maturity if they had good upper extremity function, as expressed in the PEDI Self Care Score.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.Results - Consensus on recommendations was reached within 4 themes: the interdisciplinary approach, the surgical decision-making conversation, surgical technique guidelines for OI, and the feedback loop after surgery.Interpretation - The basic guidelines of this roadmap for the interdisciplinary approach to surgical care in children and adults with OI is expected to improve standardization of clinical practice and comparability of outcomes across treatment centers.

Rehabilitation across the lifespan for individuals with arthrogryposis.

Arthrogryposis multiplex congenita (AMC) can be a perplexing diagnosis that consists of limited range of motion (ROM) and decreased muscle strength in multiple joints. The person with AMC often possesses a certain tenacity and "spunk" that assists them with adjusting and adapting to the realities of daily life. The rehabilitation process assists the individual with AMC in achieving and maintaining the maximal active and passive range of motion and strength in order to participate in activities of daily living (ADL) throughout the developmental stages. The result of this life-long process is greatly impacted by collaboration among the multidisciplinary teams. Ultimately, rehabilitation should focus on three levels of treatment: (a) body structure, (b) activity, and (c) participation. This article describes rehabilitation across the lifespan-focusing on the therapeutic needs in the infant, toddler, school age and teenage/adult years-while also highlighting opportunities for improvement.

Functional Outcome of Forearm Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of corrective forearm surgery on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This study addresses this issue. METHODS: A retrospective chart review was conducted on 19 children with OI who underwent 22 corrective forearm procedures between 1996 and 2013. Functional ability was assessed preoperatively and every year postoperatively using the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 6.8 (P=0.017) and the mean PEDI mobility score increased by 7.2 (P=0.020) at 1-year postsurgery. Functional gains were greater in moderate OI (types IV, V, and VI) than in severe OI (type III). Improved function was maintained in the majority of cases at a mean of 8.9 years postcorrection. CONCLUSIONS: Corrective forearm surgery in children with OI leads to improved functional ability. LEVEL OF EVIDENCE: Level IV.

Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of humeral rodding on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This article investigates this issue. METHODS: A retrospective chart review was conducted on 35 children with OI who underwent humeral rodding at our institution between 1995 and 2013. Fassier-Duval rods were inserted in 19 cases, K-wires in 13 cases, and Rush rods in 3 cases. Functional ability was assessed preoperatively and every year postoperatively using the self-care and mobility domains of the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 5.7 (P=0.028) and the mean PEDI mobility score increased by 3.6 (P=0.008) at 1-year postsurgery. Improved function was maintained in the majority of cases at a mean of 7.0 years postcorrection. CONCLUSIONS: Humeral rodding in children with OI leads to significant improvement in functional ability. LEVEL OF EVIDENCE: Level IV.

Muscle Function in Osteogenesis Imperfecta Type IV.

Results of previous studies suggest that children and adolescents with osteogenesis imperfecta (OI) type IV have muscle force deficits. However, muscle function remains to be objectively quantified in this population. This study aimed to assess upper and lower extremity muscle function in patients with OI type IV. It was carried out in the outpatient department of a pediatric orthopedic hospital; 27 individuals with OI type IV (7-21 years; 13 males), 27 age- and sex-matched individuals with OI type I, and 27 age- and sex-matched controls. Upper extremity muscle force was assessed with hydraulic hand dynamometry, and lower extremity muscle function (peak force per body weight and peak power per body mass) was measured by mechanography through five tests: multiple two-legged hopping, multiple one-legged hopping, single two-legged jump, chair-rise test, and heel-rise test. Upper-limb grip force was normal for patients with OI type IV when compared to height and sex reference data (average z-score = 0.17 ± 1.30; P = 0.88). Compared to age- and sex-matched controls, patients with OI type IV had approximately 30% lower-limb peak force and 50% peak power deficits (P values <0.05). At the lower-limb level, they had a 50% lower peak power than age- and sex-matched patients with OI type I (P < 0.05). Patients with OI type IV have normal upper-limb muscle force but a muscle function deficit at the lower-limb level. These results suggest that lower-limb muscle weakness may contribute to functional deficits in these individuals.

Safety and Efficacy of Botulinum Toxin A in Children Undergoing Lower Limb Lengthening and Deformity Correction: Results of a Double-blind, Multicenter, Randomized Controlled Trial.

BACKGROUND: Lengthening of the lower limb is a complex procedure in which pain management and complications such as pin-site infections and muscle contractures impact the family and affect the child's quality of life. As a result, the paralytic and antinociceptive actions of neurotoxins may be indicated in managing these complications; however, few studies have explored ways to improve outcomes after lengthenings. The objective of this study was to evaluate the safety and efficacy of botulinum toxin A (BTX-A) in children undergoing lower limb lengthenings and deformity correction. METHODS: Participants with a congenital or acquired deformity of the lower extremity requiring surgery to one limb were randomized to receiving either BTX-A as a single dose of 10 units per kilogram body weight, or an equivalent volume of saline solution. Pain, medication, quality of life, and physical function were assessed at different time-points. Adverse events were recorded in all participants. T test and χ tests were used to compare potential differences across both groups. RESULTS: Mean age of the 125 participants was 12.5 years (range, 5 to 21 y), and lengthenings averaged 4.2 cm. Maximum pain scores on day 1 postoperatively were lower in the BTX-A group (P=0.03) than in the placebo group, and remained significant favoring botox when stratifying by location of lengthening (femur vs. tibia). Clinical benefits for BTX-A were found for 3 quality of life domains at mid-distraction and end-distraction. When stratifying according to location of lengthening, there were significantly fewer pin-site infections in the tibia favoring botox (P=0.03). The amount of adverse events and bone healing indices were no different in both groups. CONCLUSIONS: The clinical differences in quality of life, the lower pain on the first postoperative day, and the lower number of pin-site infections in the tibia favoring BTX-A support its use as an adjunctive treatment to the lengthening process. The detailed analyses of pain patterns help inform families on the pain expectations during lower limb lengthenings. The amount of adverse events were no different in both groups, and bone healing rates were similar, indicating that the use of BTX-A in children undergoing limb lengthening and deformity correction is safe. LEVEL OF EVIDENCE: Level I.

Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.

OBJECTIVE: To determine the functional outcomes associated with long-term multidisciplinary treatment, intravenous bisphosphonate treatment, orthopedic surgery, and rehabilitation in children with severe osteogenesis imperfecta (OI) (diagnosed clinically as OI types III or IV). DESIGN: Retrospective study where outcomes were measured prospectively. SETTING: Pediatric orthopedic hospital. PARTICIPANTS: Adolescents (N=41; age range, 15-21y) with severe OI (OI type III: n=17; OI type IV: n=24) who had started therapy before the age of 6 years, had received treatment for at least 10 years, and had achieved final height. INTERVENTIONS: Intravenous bisphosphonate treatment, orthopedic surgery, and rehabilitation. MAIN OUTCOME MEASURE: Pediatric Evaluation of Disability Inventory. RESULTS: At the time of the last available follow-up examination, none of the individuals diagnosed with OI type III (most severely affected group) was able to ambulate without ambulation aids, whereas 20 (83%) patients with OI type IV were able to ambulate without ambulation aids. Regarding self-care, we specifically assessed 8 skills that we deemed essential for living independently (grooming; dressing; toileting; bed, chair, toilet, tub, and car transfers). Only 6 (35%) of the youths with OI type III were able to complete all 8 items, whereas 23 (96%) individuals with OI type IV managed to perform all tasks. Teens with OI type III often needed assistance for the transfer to toilet, tub, and car and for personal hygiene and clothing management associated with toileting, usually because of limitations in upper-extremity function. CONCLUSIONS: These observations suggest that further improvements in the functional status of the most severely affected children with OI are contingent on advances in the clinical management of upper-extremity issues.

Functional outcomes associated with adaptive seating interventions in children and youth with wheeled mobility needs.

OBJECTIVE: To determine the parent-reported functional outcomes associated with adaptive seating devices for wheeled mobility devices used by young people aged 1 to 17 years. DESIGN: Longitudinal case series. SETTING: Homes of participating parents. PARTICIPANTS: Parents (N=70, 63 mothers, 6 fathers, 1 grandmother) who had children with adaptive seating needs. INTERVENTION: Adaptive seating system for wheeled mobility devices. MAIN OUTCOME MEASURE: Family Impact of Assistive Technology Scale for Adaptive Seating (FIATS-AS). RESULTS: All parents completed the FIATS-AS 4 times-2 times before and 2 times after their child received a new adaptive seating system. Mixed-design analysis of variance did not detect significant mean differences among the FIATS-AS scores measured at baseline and 2 and 8 months after receiving the seating system (F2,134=.22, P=.81). However, the FIATS-AS detected a significant interaction between age cohort and interview time (F4,134=4.5, P<.001, partial η(2)=.16). Post hoc testing confirmed that 8 months after receiving the seating system was associated with a large improvement in child and family functioning for children <4 years, maintenance of functioning for children between 4 and 12 years, and a moderate decline in functioning for youth between 13 and 17 years. CONCLUSIONS: Adaptive seating interventions for wheeled mobility devices are associated with functional changes in the lives of children and their families that interact inversely with age. Future controlled longitudinal studies could provide further empirical evidence of functional changes in the lives of children and their families after the introduction and long-term use of specific adaptive seating interventions.

The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder that causes increased bone fragility. Living with, caring for, and parenting a child with OI are all highly demanding and challenging. This study is a temporal analysis of the impact of severe OI on the lives of young patients and their parents. METHODS: This study was carried out at the Shriners Hospital for Children, a pediatric orthopedic hospital located in Montreal, Canada. Using qualitative interpretative description, we conducted semi-structured interviews with 24 subjects - 12 young patients diagnosed with severe OI and 12 of their parents. The interview data were subject to a predominantly inductive open thematic analysis and a temporal comparative analysis. We did a retrospective chart review to complement our data collection. RESULTS: We found that the impact of severe OI on the young patients and their parents was characterized by four themes: 1) Starting at the time of diagnosis, a series of stages shaped life and the return to every day "normal", 2) Living with OI was full of "ups and downs" throughout life, 3) Every day "normal" life with OI consisted of significant changes for parents and challenges for the whole family, and 4) Living with OI generated some positive experiences. CONCLUSION: This study contributes to a better theoretical understanding of the impact of severe OI on families. It also has some practical implications for the development of effective support systems for patients with severe OI and their families.

Stakeholder engagement in the development of an upper extremity outcome measure for children with rare musculoskeletal conditions.

BACKGROUND: Upper extremity (UE) involvement is prevalent in 73% of individuals with arthrogryposis multiplex congenita (AMC), yet no AMC-specific outcome measure exists. When developing a measure specific to a population with a rare musculoskeletal condition, clinicians' and patients' perspectives and involvement is a crucial and necessary step. This study sought to determine the most clinically useful items for an outcome measure of UE function for children with AMC as defined by caregivers and clinicians. METHODS: To ensure the perspectives and needs of caregivers of children with AMC and clinicians were considered in the development of the UE measure for AMC, a Nominal Group technique (NGT) with caregivers of children with AMC (phase 1) followed by a three-round survey with clinicians (phase 2) were carried out. RESULTS: Phase 1: Eleven individuals participated in the nominal group technique and identified 32 items. The most important items were Picking up an object (n = 11), Eating (n = 10), Reaching mouth (n = 10), Getting out of bed (n = 10). Phase 2: Invitations to participate to an online survey was sent to 47 experts in the field of AMC, 20 participants completed round 1, 15 completed round 2 and 13 completed round 3. Throughout the survey, participants were asked about movement required to screen the UE, essential domains to be included in the measure, establishing a scoring guide and identifying tasks associated with joint motion and position. CONCLUSION: A preliminary version of an UE AMC-specific outcome measure was developed with the help of caregivers' perspectives and expert opinions.

Arthrogryposis multiplex congenita (AMC) is a rare musculoskeletal condition affects the joints and muscles of the body. In about 70% of the cases, it affects the upper extremities (UE). However, there is no specific outcome measure for UE function in children with AMC. An outcome measure refers to a tool or method used to assess and measure the results or effects of a particular treatment, intervention, or condition. It helps healthcare professionals and researchers understand the impact or outcome of a specific situation, such as the level of improvement or changes in a person's health or function. The goal of this study was to develop such a measure while accounting for the perspectives of youth with AMC, their caregivers and clinicians. To achieve this, a study was conducted in two phases. In the first phase, a Nominal Group technique (NGT) was used to gather input from caregivers of children with AMC. Eleven individuals participated and identified 32 items, with the most important being picking up an object, eating, reaching the mouth, and getting out of bed. In the second phase, a three-round survey was sent to 47 experts in the field of AMC, with 20 participants completing the first round, 15 completing the second round, and 13 completing the third round. The survey asked participants about screening UE movement, essential domains to include in the measure, establishing a scoring guide, and identifying tasks associated with joint motion and position. With the help of caregivers' perspectives and expert opinions, a preliminary version of an UE AMC-specific outcome measure was developed. This measure will be useful in assessing the UE function in children with AMC and will aid clinicians in developing appropriate treatment plans for this rare condition.

Content range and precision of a computer adaptive test of upper extremity function for children with cerebral palsy.

This article reports on the content range and measurement precision of an upper extremity (UE) computer adaptive testing (CAT) platform of physical function in children with cerebral palsy. Upper extremity items representing skills of all abilities were administered to 305 parents. These responses were compared with two traditional standardized measures: Pediatric Outcomes Data Collection Instrument and Functional Independence Measure for Children. The UE CAT correlated strongly with the upper extremity component of these measures and had greater precision when describing individual functional ability. The UE item bank has wider range with items populating the lower end of the ability spectrum. This new UE item bank and CAT have the capability to quickly assess children of all ages and abilities with good precision and, most importantly, with items that are meaningful and appropriate for their age and level of physical function.

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.

BACKGROUND: Osteogenesis Imperfecta (OI) is a genetic disorder also known as 'brittle bone disease'. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. METHODS: The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology. RESULTS: More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. CONCLUSION: The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.

Precision and content range of a parent-reported item bank assessing lower extremity and mobility skills in children with cerebral palsy.

AIM: The aim of this study was to determine the psychometric properties, content range, and measurement precision of a lower extremity physical functioning and mobility skills item bank (LE85) in children with cerebral palsy (CP). METHOD: Lower extremity functioning and mobility skill items were administered to 308 parents of children (169 males, 139 females; mean age 10y 8mo, SD 4y) with spastic CP (145 diplegia, 73 hemiplegia, 89 quadriplegia; [for one person type of CP was unknown]) classified using the Gross Motor Function Classification System (75 level I, 91 level II, 79 level III, 37 level IV, 26 level V). Additional legacy measures were administered to assess concurrent validity. Psychometric characteristics, differential item functioning, content range, and score precision were examined. RESULTS: The LE85 had acceptable psychometric properties. Content range matched the ability range of the sample population and exceeded legacy measures with minimal differential item functioning. The LE85 had good correlation with the Paediatric Outcomes Data Collection Instrument, Functional Independence Measure for Children, Gillette Functional Assessment Questionnaire, and Paediatric Quality of Life Inventory-CP module (range r=0.63-0.86). Precision of the LE85 and 10-item simulated computer adaptive test scores outperformed legacy measures. INTERPRETATION: The LE85 appears to be suitable to administer as a computer adaptive test to measure lower extremity physical functioning and mobility in children with CP.

Ambulation gains after knee surgery in children with arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita is a rare congenital disorder associated with multiple musculoskeletal contractures that causes substantial morbidity. Knee involvement is commonly seen among children with arthrogryposis, with flexion contracture of the knee being the most frequent knee deformity. Knee flexion contractures in the pediatric population are particularly debilitating as they affect ambulation. Treatment for knee flexion contractures requires numerous orthopaedic procedures and an extensive follow-up period. The purpose of this study was to assess the effectiveness of orthopaedic procedures, namely distal femoral supracondylar extension osteotomy and/or Ilizarov external fixator, on the ambulation status of children with knee flexion contracture and whether any functional gains are maintained at the latest follow-up. METHODS: All children with arthrogryposis followed at our institution who had surgical correction for knee flexion contractures were included in this study. Fourteen patients were identified and their medical records were reviewed. The etiology for all patients was amyoplasia. The mean age at first surgery was 7.0 years (range, 2 to 16 y). The mean length of follow-up was 59.3 months (range, 12 to 117 mo). Contractures were treated with femoral extension osteotomy (n=8), Ilizarov external fixator (n=1), or both (n=5). Three patients earlier had posterior soft tissue releases, including hamstrings lengthenings, proximal gastrocnemius release, and release of posterior capsule. RESULTS: Preoperatively, 11 patients were nonambulatory, 2 patients were household ambulators, and 1 patient walked with orthoses in the community. There was an average of 1.8 knee surgeries done per patient, namely distal femoral extension osteotomy and/or Ilizarov external fixator. At the latest follow-up, 8 patients were ambulatory with technical aids (orthosis, walker, braces, or rollator walker), 2 patients were household ambulators, 1 patient used a wheelchair but was independent for transfers, and 3 patients remained nonambulatory. The mean flexion contracture before the first surgery was 63.7 ± 26.8 degrees. Postoperatively, the mean flexion contracture was 13.2 ± 16.7 degrees. At the latest follow-up, the mean flexion contracture was 34.0 ± 24.1 degrees. There were complications in 2 patients, including infected hardware which resolved with antibiotic treatment, and neurologic compromise which resolved on its own. CONCLUSIONS: Surgical correction of knee flexion deformities by distal femoral extension osteotomy and/or Ilizarov external fixator was effective in improving the ambulation status of children with arthrogryposis. At latest follow-up, the gradual loss of total arc of motion and the recurrence of knee flexion contractures did not limit the ambulatory gains achieved. LEVEL OF EVIDENCE: IV, Case series.

Validity and reliability of physical functioning computer-adaptive tests for children with cerebral palsy.

BACKGROUND: The purpose of this study was to assess the concurrent validity and reliability of scores from 4 new parent-report computer-adapted testing (CAT) programs developed to measure the physical functioning of children with cerebral palsy (CP). The Shriners Hospitals for Children CP-CAT battery includes upper-extremity skills, lower-extremity and mobility skills, activity, and global physical health. METHODS: This was a prospective study of 91 children with CP who were tested cross-sectionally and 27 children with CP who were administered the CP-CAT programs twice within approximately a 1-month interval. We examined the concurrent validity of the 4 Shriners Hospitals for Children CP-CAT programs by Pearson correlations with comparative parent-report instruments. The scale reliability was tested by developing estimates of marginal reliability; test-retest reliability was assessed by intraclass correlations. RESULTS: Pearson correlations were moderate to high in matching content domains of the CATs with the comparison measures. Marginal reliability estimates were always better for the CAT program than the comparative instruments. Average test-retest reliability using Intraclass correlations across the 4 CATs was ICC3,1=0.91 with a range of 0.88 to 0.94. CONCLUSIONS: We found the CAT scores to be related to expected domains from external instruments, to have good scale reliability, and to have stable scores as determined by test-retest reliability. These results support the use of parent-report CATs in the assessment of physical functioning in children with CP.

A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.

PURPOSE: Arthrogryposis multiplex congenita (AMC) refers to a large heterogeneous group of conditions involving joint contractures in two or more different areas of the body. Contractures can lead to decreased range of motion and strength, and affect ambulation and autonomy. The aim of this study was to describe the orthopedic interventions and functional outcomes of a large cohort of children with AMC followed in a pediatric orthopedic center. METHODS: A retrospective chart review of all children diagnosed with AMC followed at Shriners Hospital for Children - Canada (SHC) between January 1979 and July 2016 was conducted. One hundred twenty patients were identified, of whom six were excluded due to misdiagnosis or insufficient chart information. One hundred fourteen were retained. Patient demographics, AMC classification, comorbidities, operative and non-operative treatments received as well as community ambulation status, level of autonomy in self-care and transfers at latest follow-up were recorded. RESULTS: There were 54 males and 60 females with a mean age at last clinic visit of 10 years 3 months. Amyoplasia and distal arthrogryposis (DA) were equally represented in our sample, 47 (41.2%) and 49 (43.0%) participants respectively, with the category Other comprising the remaining 18 (15.8%) participants. Children with DA had less involvement of the proximal joints than those in the two other groups. Contractures and deformities of the foot and ankle were the most prevalent, affecting 91.5% with Amyoplasia, 85.7% with DA and 83.3% in the Other category. Contractures of the shoulder and elbow were more common among individuals with Amyoplasia and those categorized Other than those with DA. In terms of walking ability, 98% of participants with DA were independent ambulators. Walking ability varied among the Other participants. Similarly, most children with DA were independent in self-care and transfers at the most recent follow-up. CONCLUSION: The relatively large sample size of this study allowed for a better insight into the challenges associated with AMC management. These findings demonstrated the need for genetic testing to provide accurate diagnosis and classification, along with the use of standardized outcome tools to measure effectiveness of interventions. As AMC is rare, multi-site prospective studies are needed to improve research opportunities, develop functional measures specific to AMC and disseminate findings on a wider scale.

Development of a parent-report computer-adaptive test to assess physical functioning in children with cerebral palsy I: lower-extremity and mobility skills.

The objective of this project was to develop computer-adaptive tests (CATs) using parent reports of physical function in children and adolescents with cerebral palsy (CP). The specific aims of this study were to (1) examine the psychometric properties of an item bank of lower-extremity and mobility skills for children with CP; (2) evaluate a CAT using this item bank; (3) examine the concurrent validity of the CAT with the Pediatric Outcomes Data Collection Instrument (PODCI) and the Functional Assessment Questionnaire (FAQ); and (4) establish the discriminant validity of simulated CATs with Gross Motor Function Classification System (GMFCS) levels and CP type (diplegia, hemiplegia, or quadriplegia). Parents (n=190) of children and adolescents with spastic diplegic (48%), hemiplegic (22%), or quadriplegic (30%) CP consisting of 108 males and 82 females with a mean age of 10 years 7 months (SD 4y 1mo, range 2-21y) and in GMFCS levels I to V participated in item pool calibration and completed the PODCI and FAQ. Confirmatory factor analyses supported a unidimensional model for the 45 basic lower-extremity and mobility items. Simulated CATs of 5, 10, and 15 items demonstrated excellent accuracy (intraclass correlation coefficients [ICCs] >0.91) with the full item bank and had high correlations with PODCI transfers and mobility (ICC = 0.86) and FAQ scores (ICC = 0.77). All CATs discriminated among GMFCS levels and CP type. The lower-extremity and mobility skills item bank and simulated CATs demonstrated excellent performance over a wide span of ages and severity levels.

Development of a parent-report computer-adaptive test to assess physical functioning in children with cerebral palsy II: upper-extremity skills.

The specific aims of this study were to (1) examine the psychometric properties (unidimensionality, differential item functioning, scale coverage) of an item bank of upper-extremity skills for children and adolescents with cerebral palsy (CP); (2) evaluate a simulated computer-adaptive test (CAT) using this item bank; (3) examine the concurrent validity of the CAT with the Pediatric Outcomes Data Collection Instrument (PODCI) upper-extremity core scale; and (4) determine the discriminant validity of the simulated CAT with Manual Ability Classification System (MACS) levels and CP type (i.e. diplegia, hemiplegia, or quadriplegia). Parents (n=180) of children and adolescents with CP (spastic diplegia 49%, hemiplegia 22%, or quadriplegia 28%) consisting of 102 males and 78 females with a mean age of 10 years 6 months (SD 4y 1mo, range 2-21y), and MACS levels I through V participated in calibration of an item pool and completed the PODCI. Confirmatory factor analyses supported a unidimensional model using 49 of the 53 upper-extremity items. Simulated CATs of 5, 10, and 15 items demonstrated excellent accuracy (intraclass correlation coefficient [ICCs] >0.93) with the full item bank, had high correlations with the PODCI upper-extremity core scale score (ICC 0.79), and discriminated among MACS levels. The simulated CATs demonstrated excellent overall content coverage over a wide age span and severity of upper-extremity involvement. The future development and refinement of CATs for parent report of physical function in children and adolescents with CP is supported by our work.

Measurement of health-related quality of life in children undergoing external fixator treatment for lower limb deformities.

BACKGROUND: External fixator treatment (EFT) of lower limb deformities is expected to optimize gait and physical appearance, which might improve the child's health-related quality of life (HRQOL). Although EFT can impose a significant psychologic burden on the children and their families, there is a lack of studies on the HRQOL of children undergoing EFT. The purpose of this paper is to determine the construct validity and the responsiveness of the Pediatric Quality of Life Inventory (PedsQL) generic module in children with lower limb deformities undergoing EFT and to describe the use of other outcome measures in this population. METHODS: Fifty-two children (mean age: 13.0 y, SD: 4.2) who enrolled in the pilot phase of a randomized controlled trial to examine the safety and efficacy of botulinum toxin type A injections in children undergoing EFT of the lower limb were included in this study. Pain and functional mobility were measured at baseline. HRQOL was assessed with the child self-report and parent proxy-report formats of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL) at baseline, at mid-distraction, mid-consolidation, 1-week post-frame removal, and 3 months post-frame removal time points. The known groups method was used to measure the construct validity of the PedsQL; paired t tests, Cohen's d estimate of effect size (ES) and standardized response mean were used to calculate its responsiveness. RESULTS: Children and parents reported significantly lower HRQOL scores on all PedsQL domains compared with norms. ES and standardized response mean calculations both show largest amounts of change in the Physical Health domain, with children and parents reporting worse HRQOL at mid-distraction than at baseline. The PedsQL shows statistically significant changes only in the emotional functioning score of the child self-report from 3 months post-frame removal compared with baseline. CONCLUSIONS: The PedsQL is able to discriminate HRQOL between children with leg length discrepancy and the normal population. The responsiveness of the PedsQL in children with lower limb deformities was shown through patient change over time as a result of EFT. Our findings indicate the importance of assessing a wide range of domains including physical, psychosocial, and emotional components of health in children with leg length discrepancy undergoing EFT. LEVELS OF EVIDENCE: Level IV. Case series.